Hemoglobinopathy Profile With Reflex to α-Thalassemia

CPT: 82728; 83021; 85027; 85660
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Test Details

Test Includes

Complete blood count (CBC) without differential; ferritin; hemoglobinopathy fractionation profile; reflex to α-thalassemia when appropriate. (See Special Instructions.)

Use

Diagnose thalassemias and hemoglobin variants, with ferritin to evaluate total body storage iron, and complete blood count without differential to detect and/or identify a wide range of hematologic disorders. When appropriate, additional reflex testing will be performed for α-thalassemia. DNA analysis of the α-globulin gene locus (HBA1/HBA2 OMIM 141800 and 141850,16pter-16p13.3) can detect copy-number changes by targeting 24 different sequences in the α-globulin region, and will, in principle, detect all genomic deletions and duplications involving this locus, in addition to the Constant Spring point mutation. The mutations analyzed include Southeast Asian(--SEA), Thai(--Thai), Filipino(--FIL), Mediterranean(--MED), a3.7, and a4.2.

Limitations

Limitations for ferritin: As with all tests containing monoclonal mouse antibodies, erroneous findings may be obtained from samples taken from patients who have been treated with monoclonal mouse antibodies or have received them for diagnostic purposes.1 In rare cases, interference due to extremely high titers of antibodies to streptavidin and ruthenium can occur.1 The ferritin test contains additives that minimizes these effects.

Methodology

CBC: Automated cell counter; ferritin: electrochemiluminescence immunoassay (ECLIA); hemoglobin fractionation: high-pressure liquid chromatography (HPLC); hemoglobin solubility: sodium hydrosulfite reduction; if reflexed to α-thalassemia: polymerase chain reaction (PCR) and gel electrophoresis.

Additional Information

Refer to individual assays for additional information.

Specimen Requirements

Specimen

Whole blood and serum

Volume

Three lavender-top (EDTA whole blood) tubes filled to capacity and 0.8 mL serum

Minimum Volume

Two lavender-top (EDTA whole blood) tubes filled to capacity and 0.3 mL serum. (Note: This volume does not allow for repeat testing.)

Container

Lavender-top (EDTA) tubes and red-top tube or gel-barrier tube

Collection

Lavender-top (EDTA) tubes should be filled to capacity and inverted 8 to 10 times immediately after tube is filled, at the time of collection. If a red-top tube is used for serum, transfer separated serum to a plastic transport tube.

Storage Instructions

Refrigerate.

Stability Requirements

Temperature

Period

Room temperature

1 day

Refrigerated

3 days

Frozen

Unstable

Causes for Rejection

Hemolysis; quantity not sufficient for analysis; tube not filled with minimum fill volume; specimen drawn in anticoagulant other than EDTA; specimen diluted or contaminated with IV fluid; clotted specimen; improper labeling; transfer tubes with whole blood; lavender-top (EDTA) tubes received with plasma removed; frozen specimens; refrigerated specimens >48 hours old

Clinical Information

Special Instructions

This test is intended for adults age 20 and older. If MCV is <80 and ferritin is normal or high, testing will reflex to α-thalassemia DNA.

This test may exhibit interference when sample is collected from a person who is consuming a supplement with a high dose of biotin (also termed as vitamin B7 or B8, vitamin H, or coenzyme R). It is recommended to ask all patients who may be indicated for this test about biotin supplementation. Patients should be cautioned to stop biotin consumption at least 72 hours prior to the collection of a sample.

Footnotes

1. Ferritin. V7 Elecsys and Cobas Analyzers [package insert]. Indianapolis, Ind: Roche Diagnostics;2007-08.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
451363 Hemoglobpathy+Fer w/A Thal Rfx 121680 Hgb Solubility 6864-3
451363 Hemoglobpathy+Fer w/A Thal Rfx 121685 Hgb F % 4576-5
451363 Hemoglobpathy+Fer w/A Thal Rfx 121681 Hgb A % 4546-8
451363 Hemoglobpathy+Fer w/A Thal Rfx 121682 Hgb S % 4625-0
451363 Hemoglobpathy+Fer w/A Thal Rfx 121683 Hgb C % 4563-3
451363 Hemoglobpathy+Fer w/A Thal Rfx 121684 Hgb A2 % 34660-1
451363 Hemoglobpathy+Fer w/A Thal Rfx 121686 Hgb Variant % 42248-5
451363 Hemoglobpathy+Fer w/A Thal Rfx 121687 Interpretation 12710-0
451363 Hemoglobpathy+Fer w/A Thal Rfx 004598 Ferritin, Serum ng/mL 2276-4
451363 Hemoglobpathy+Fer w/A Thal Rfx 005025 WBC x10E3/uL 6690-2
451363 Hemoglobpathy+Fer w/A Thal Rfx 005033 RBC x10E6/uL 789-8
451363 Hemoglobpathy+Fer w/A Thal Rfx 005041 Hemoglobin g/dL 718-7
451363 Hemoglobpathy+Fer w/A Thal Rfx 005058 Hematocrit % 4544-3
451363 Hemoglobpathy+Fer w/A Thal Rfx 015065 MCV fL 787-2
451363 Hemoglobpathy+Fer w/A Thal Rfx 015073 MCH pg 785-6
451363 Hemoglobpathy+Fer w/A Thal Rfx 015081 MCHC g/dL 786-4
451363 Hemoglobpathy+Fer w/A Thal Rfx 105007 RDW % 788-0
451363 Hemoglobpathy+Fer w/A Thal Rfx 015172 Platelets x10E3/uL 777-3
451363 Hemoglobpathy+Fer w/A Thal Rfx 015945 NRBC % 58413-6
451363 Hemoglobpathy+Fer w/A Thal Rfx 451854 Alpha Thal Reflex N/A
Reflex Table for Interpretation
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121088 LCA Hemoglobin Lab INTERP 121089 LCA Hemoglobin Lab INTERP 12710-0
Reflex Table for Alpha Thal Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511229 Alpha-Thalassemia 511232 Alpha-Thalassemia 21688-7
Reflex Table for Alpha Thal Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511229 Alpha-Thalassemia 511939 PDF 80563-0

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